A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999806



Internal ID16946072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30003594..30007293hg38UCSC Ensembl
Outerchr19:30494501..30498200hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953270
Supporting Variants
SamplesBILGI_BIOE
Known GenesURI1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999806
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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